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MED13L gene

Known as: KIAA1025, THRAP2, TRAP240-LIKE PROTEIN 
 
National Institutes of Health

Papers overview

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2018
2018
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual… Expand
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2017
2017
Key Clinical Message Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle… Expand
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2016
2016
Background Intellectual disability is a very complex condition where more than 600 genes have been reported. Due to this… Expand
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2015
2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein… Expand
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2015
2015
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search… Expand
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2015
2015
MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability… Expand
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Highly Cited
2014
Highly Cited
2014
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been… Expand
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Review
2014
Review
2014
MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across… Expand
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2013
2013
A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the… Expand
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Congenital heart disease represents the most common severe birth defect, affecting 0.7% to 1% of all neonates, among… Expand
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